Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT A dual role for EDEM1 in the processing of rod opsin. 19934218

2009
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. 19960070

2009
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa. 12566452

2003
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa. 9452035

1998
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077

1996
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. 7633434

1995
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. 8045708

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. 8081400

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 7981701

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 8088850

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. 8076945

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. 7987326

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. 7987331

1994
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. 8317502

1993
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. 8353500

1993
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. 1302614

1992
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP). 1391967

1992
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. 1985460

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. 1897520

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 1862076

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. 1840561

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. 1833777

1991
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 2137202

1990
Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		0.910 GeneticVariation UNIPROT Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 2215617

1990